{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T11:56:46Z","timestamp":1781611006920,"version":"3.54.5"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T00:00:00Z","timestamp":1781568000000},"content-version":"vor","delay-in-days":166,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Malan syndrome is a rare overgrowth disorder caused by deletions or pathogenic variants in the\n                    <jats:italic>NFIX<\/jats:italic>\n                    gene. Here, we present the case of a Japanese male infant with Malan syndrome, which was caused by a novel frameshift variant resulting from an eight\u2010base insertion in Exon 2 of the\n                    <jats:italic>NFIX<\/jats:italic>\n                    gene. Echocardiography revealed dilatation of the pulmonary artery without hemodynamic abnormalities. Malan syndrome shares many clinical features with Sotos syndrome, including overgrowth, macrocephaly, developmental delay, and intellectual disability. Therefore, molecular genetic testing is required for diagnosis. Pathogenic variants in the\n                    <jats:italic>NFIX<\/jats:italic>\n                    gene have also been reported in individuals with Marshall\u2013Smith syndrome. Some individuals exhibit phenotypic overlap between Malan syndrome and Marshall\u2013Smith syndrome. Our patient was diagnosed with Malan syndrome because he had a frameshift variant in Exon 2, resulting in haploinsufficiency, and exhibited macrocephaly, but not proptosis or micrognathia. To our knowledge, this is the second reported case in the literature of concomitant pulmonary artery dilatation in Malan syndrome.\n                  <\/jats:p>","DOI":"10.1155\/crig\/4265185","type":"journal-article","created":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T11:43:36Z","timestamp":1781610216000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case of Malan Syndrome With Pulmonary Artery Dilatation due to a Novel Frameshift Variant in Exon 2 of the\n                    <i>NFIX<\/i>\n                    Gene"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-7588-1920","authenticated-orcid":false,"given":"Toshihiko","family":"Mori","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayu","family":"Hirano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeto","family":"Fuse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maki","family":"Katai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-5245-6442","authenticated-orcid":false,"given":"Hiroko","family":"Shigetomi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,16]]},"reference":[{"key":"e_1_2_12_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.07.001"},{"key":"e_1_2_12_2_2","volume-title":"GeneReviews\u00ae [Internet]","author":"Priolo M.","year":"2024"},{"key":"e_1_2_12_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35790"},{"key":"e_1_2_12_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2018.11.044"},{"key":"e_1_2_12_5_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02384-9"},{"key":"e_1_2_12_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/432082"},{"key":"e_1_2_12_7_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03288-6"},{"key":"e_1_2_12_8_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.02293-06"},{"key":"e_1_2_12_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2016.02.014"},{"key":"e_1_2_12_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2015.135"},{"key":"e_1_2_12_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.04.012"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/4265185","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crig\/4265185","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/4265185","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T11:43:37Z","timestamp":1781610217000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crig\/4265185"}},"subtitle":[],"editor":[{"given":"Neetu","family":"Rawal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crig\/4265185"],"URL":"https:\/\/doi.org\/10.1155\/crig\/4265185","archive":["Portico"],"relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-11-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-29","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-16","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"4265185"}}